Zobrazeno 1 - 10
of 192
pro vyhledávání: '"Yair, Anikster"'
Autor:
Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 5, Pp 1-21 (2023)
Abstract Topoisomerase 3α (TOP3A) is an enzyme that removes torsional strain and interlinks between DNA molecules. TOP3A localises to both the nucleus and mitochondria, with the two isoforms playing specialised roles in DNA recombination and replica
Externí odkaz:
https://doaj.org/article/c9e7e4ced0784d4394725c67d2a116f4
Autor:
Orna Staretz-Chacham, Nadirah S. Damseh, Suha Daas, Nasser Abu Salah, Yair Anikster, Ortal Barel, Elena Dumin, Aviva Fattal-Valevski, Tzipora C. Falik-Zaccai, Eli Hershkovitz, Sagi Josefsberg, Yuval Landau, Tally Lerman-Sagie, Hanna Mandel, Rachel Rock, Nira Rostami, Talya Saraf-Levy, Nava Shaul Lotan, Ronen Spiegel, Galit Tal, Igor Ulanovsky, Yael Wilnai, Stanley H. Korman, Shlomo Almashanu
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Introduction: Hereditary orotic aciduria is an extremely rare, autosomal recessive disease caused by deficiency of uridine monophosphate synthase. Untreated, affected individuals may develop refractory megaloblastic anemia, neurodevelopmental disabil
Externí odkaz:
https://doaj.org/article/a4eeec32a8884c4395e424f817425fe1
Autor:
Shachar Abudi-Sinreich, Steven P. Bodine, Tadafumi Yokoyama, Nathanial J. Tolman, Michal Tyrlik, Lauren C. Testa, Chen G. Han, Heidi M. Dorward, Stephen M. Wincovitch, Yair Anikster, William A. Gahl, Resat Cinar, Bernadette R. Gochuico, May Christine V. Malicdan
Publikováno v:
Respiratory Research, Vol 23, Iss 1, Pp 1-10 (2022)
Abstract Background HPS-1 is a genetic type of Hermansky-Pudlak syndrome (HPS) with highly penetrant pulmonary fibrosis (HPSPF), a restrictive lung disease that is similar to idiopathic pulmonary fibrosis (IPF). Hps1 ep/ep (pale ear) is a naturally o
Externí odkaz:
https://doaj.org/article/eac6fc1a82114d36a07a67ff3d28be6a
Autor:
Maayan Kagan, Rotem Semo-Oz, Yishay Ben Moshe, Danit Atias-Varon, Irit Tirosh, Michal Stern-Zimmer, Aviva Eliyahu, Annick Raas-Rothschild, Maayan Bivas, Omer Shlomovitz, Odelia Chorin, Rachel Rock, Michal Tzadok, Bruria Ben-Zeev, Gali Heimer, Yoav Bolkier, Noah Gruber, Adi Dagan, Bat El Bar Aluma, Itai M. Pessach, Gideon Rechavi, Ortal Barel, Ben Pode-Shakked, Yair Anikster, Asaf Vivante
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
Background: Genetic conditions contribute a significant portion of disease etiologies in children admitted to general pediatric wards worldwide. While exome sequencing (ES) has improved clinical diagnosis and management over a variety of pediatric su
Externí odkaz:
https://doaj.org/article/5ffe107900c941c4ab532f5edb295397
Autor:
Eyal Kristal, Ben Pode-Shakked, Guy Hazan, Ehud Banne, Galina Ling, Odeya David, Eilon Shany, Annick Raas-Rothschild, Yair Anikster, Katya Kneller, Eli Hershkovitz, Yuval E. Landau, Ronen Spiegel, Yoav Zehavi, Orna Staretz-Chacham
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-6 (2021)
Abstract Background Severe acute respiratory syndrome coronavirus 2 (SARS CoV-2) is the causative agent of the current COVID-19 pandemic. Lysosomal storage disorders (LSD) comprise of 70 inherited inborn errors of metabolism. Affected individuals suf
Externí odkaz:
https://doaj.org/article/8b5cbfe869724833b439ca921dcf05fd
Autor:
Dina Marek-Yagel, Shachar Abudi-Sinreich, Michal Macarov, Alvit Veber, Nechama Shalva, Amit Mary Philosoph, Ben Pode-Shakked, May Christine V. Malicdan, Yair Anikster
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Hermansky–Pudlak syndrome (HPS) is a group of rare autosomal recessive disorders characterized by oculocutaneous albinism (OCA) and bleeding diathesis. To date, 11 HPS types have been reported (HPS-1 to HPS-11), each defined by disease-causing vari
Externí odkaz:
https://doaj.org/article/d052a0aa8c6c4f508f394a32a1bea017
Autor:
Arcangela Iuso, Fangfang Zhang, Ejona Rusha, Birgit Campbell, Tatjana Dorn, Enrica Zanuttigh, Dorothea Haas, Yair Anikster, Gabriele Lederer, Anna Pertek, Polyxeni Nteli, Karl-Ludwig Laugwitz, Alessandra Moretti
Publikováno v:
Stem Cell Research, Vol 61, Iss , Pp 102773- (2022)
Phosphopantothenoylcysteine synthetase (PPCS) catalyzes the second step of the de novo coenzyme A (CoA) synthesis starting from pantothenate. Mutations in PPCS cause autosomal-recessive dilated cardiomyopathy, often fatal, without apparent neurodegen
Externí odkaz:
https://doaj.org/article/bfbe0d509a7b486fa070c01aa0b551ed
Autor:
Marjan Huizing, Tal Yardeni, Federico Fuentes, May C.V. Malicdan, Petcharat Leoyklang, Alexander Volkov, Benjamin Dekel, Emily Brede, Jodi Blake, Alva Powell, Harish Chatrathi, Yair Anikster, Nuria Carrillo, William A. Gahl, Jeffrey B. Kopp
Publikováno v:
Kidney International Reports, Vol 4, Iss 10, Pp 1454-1462 (2019)
Introduction: Sialic acids are important contributors to the polyanionic component of the glomerular filtration barrier, which regulates permeability selectivity. Pathologic glomerular hyposialylation, associated with podocyte effacement, has been im
Externí odkaz:
https://doaj.org/article/95a3cca4c1844c918ae56167d6ccdca6
Autor:
Irit Tirosh, Shiri Spielman, Ortal Barel, Reut Ram, Tali Stauber, Gideon Paret, Marina Rubinsthein, Itai M. Pessach, Maya Gerstein, Yair Anikster, Rachel Shukrun, Adi Dagan, Katerina Adler, Ben Pode-Shakked, Alexander Volkov, Marina Perelman, Shoshana Greenberger, Raz Somech, Einat Lahav, Amar J. Majmundar, Shai Padeh, Friedhelm Hildebrandt, Asaf Vivante
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 17, Iss 1, Pp 1-11 (2019)
Abstract Background Systemic lupus erythematosus (SLE) comprise a diverse range of clinical manifestations. To date, more than 30 single gene causes of lupus/lupus like syndromes in humans have been identified. In the clinical setting, identifying th
Externí odkaz:
https://doaj.org/article/f82d0d189e6b482e8ba4d7f0b981974a
Autor:
Ben Pode-Shakked, Asaf Vivante, Ortal Barel, Shai Padeh, Dina Marek-Yagel, Alvit Veber, Shachar Abudi, Aviva Eliyahu, Irit Tirosh, Shiri Shpilman, Shirlee Shril, Friedhelm Hildebrandt, Mordechai Shohat, Yair Anikster
Publikováno v:
BMC Medical Genetics, Vol 20, Iss 1, Pp 1-6 (2019)
Abstract Background Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal-recessive, non-inflammatory arthropathy, shown to be caused by mutations in the WNT1-inducible signaling pathway protein 3 (WISP3) gene. Although several hundred ca
Externí odkaz:
https://doaj.org/article/21ee6b5247cf41b39363d1574af2d8da